American Journal of Medical Genetics Part A This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.
Cardiopulmonary fitness assessment on maximal and submaximal exercise testing in patients with Fabry disease
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 4, 2018 Category: Genetics & Stem Cells Authors: Adam W.
Powell
,
John L.
Jefferies
,
Robert J.
Hopkin
,
Wayne A.
Mays
,
Zhiqian
Goa
,
Clifford
Chin Source Type: research
Pain and sleep quality in children with non ‐vascular Ehlers–Danlos syndromes
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 4, 2018 Category: Genetics & Stem Cells Authors: Michael
Muriello
,
Julia L.
Clemens
,
Weiyi
Mu
,
Phuong T.
Tran
,
Peter C.
Rowe
,
Christy H.
Smith
,
Clair
Francomano
,
Joann
Bodurtha
,
Antonie D.
Kline Source Type: research
Multilineage ACTB mutation in a patient with fibro ‐osseous maxillary lesion and pilocytic astrocytoma
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Young H.
Lim
,
Andrea B.
Burke
,
Mary S.
Roberts
,
Michael T.
Collins
,
Keith A.
Choate Source Type: research
Isolated dentinogenesis imperfecta with glass ‐like enamel caused by COL1A2 mutation
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Piranit Nik
Kantaputra
,
Wannapa
Chinadet
,
Worrachet
Intachai
,
Chumpol
Ngamphiw
,
James R.
Ketudat Cairns
,
Sissades
Tongsima Source Type: research
Phenotypic diversity of patients diagnosed with VACTERL association
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Majid
Husain
,
Marina
Dutra ‐Clarke
,
Bryan
Lemieux
,
Marie
Wencel
,
Benjamin D.
Solomon
,
Virginia
Kimonis Source Type: research
Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Shino
Shimada
,
Kyoko
Hirasawa
,
Akiko
Takeshita
,
Hidetsugu
Nakatsukasa
,
Keiko
Yamamoto ‐Shimojima
,
Taichi
Imaizumi
,
Satoru
Nagata
,
Toshiyuki
Yamamoto Source Type: research
Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Andrea
Merker
,
Luitgard
Neumeyer
,
Niels Thomas
Hertel
,
Giedre
Grigelioniene
,
Klaus
Mohnike
,
Lars
Hagen äs Source Type: research
Intrafamilial clinical variability in four families with incontinentia pigmenti
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Luiza M.
Mariath
,
Fernanda D.
Santa Maria
,
Cl áudia S.
Poziomczyk
,
Giovanni M.
Travi
,
Gabriela E.
Wachholz
,
Stephanie R.
De Souza
,
Ana E.
Kiszewski
,
Lavínia
Schuler‐Faccini Source Type: research
Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Eriko
Nishi
,
Mizue
Takasugi
,
Rie
Kawamura
,
Soichi
Shibuya
,
Shigeru
Takamizawa
,
Takehiko
Hiroma
,
Tomohiko
Nakamura
,
Tomoki
Kosho Source Type: research
Variable Clinical Manifestations of Xia ‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Alyssa L.
Ritter
,
Carey
McDougall
,
Cara
Skraban
,
Livija
Medne
,
Emma C.
Bedoukian
,
Stephanie B.
Asher
,
Jorune
Balciuniene
,
Colleen D.
Campbell
,
Samuel W.
Baker
,
Elizabeth H.
Denenberg
,
Sarah
Mazzola
,
Source Type: research
Silver Russel syndrome in an aboriginal patient from Australia
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Cathryn
Poulton
,
Dimitar
Azmanov
,
Vanessa
Atkinson
,
John
Beilby
,
Lisa
Ewans
,
Dylan
Gration
,
Lauren
Dreyer
,
Vinutha
Shetty
,
Ciara
Peake
,
Emma
McCormack
,
Richard
Palmer
,
Barry
Lewis
,
Hugh
Dawkins
Source Type: research
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Monica H.
Wojcik
,
Kyoko
Okada
,
Sanjay P.
Prabhu
,
Dan W.
Nowakowski
,
Keri
Ramsey
,
Chris
Balak
,
Sampath
Rangasamy
,
Catherine A.
Brownstein
,
Klaus
Schmitz ‐Abe
,
Julie S.
Cohen
,
Ali
Fatemi
,
Jiahai
Shi
Source Type: research
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 25, 2018 Category: Genetics & Stem Cells Authors: Christine P.
Burren
,
Richard
Caswell
,
Bruce
Castle
,
C. Ross
Welch
,
Tom N.
Hilliard
,
Sarah F.
Smithson
,
Sian
Ellard Source Type: research
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 25, 2018 Category: Genetics & Stem Cells Authors: Dalila
De Vita
,
Davide
Mei
,
Domenico
Rutigliano
,
Niccol ò
Bartalucci
,
Claudia Maria
Cinnante
,
Elena
Parrini
,
Robertino
Dilena
,
Renzo
Guerrini Source Type: research
Cover Image, Volume 176A, Number 8, August 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 8, August 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 23, 2018 Category: Genetics & Stem Cells Authors: ArunkanthAnkala
,
NierajJain
,
BakerHubbard
,
John J.Alexander
,
Suma P.Shankar Source Type: research